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Volumn 261, Issue 3, 2014, Pages 500-503

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

Author keywords

COL4A2; Intracerebral hemorrhage; Leukoencephalopathy; MRI; Neurogenetics

Indexed keywords

COL4A2 PROTEIN; COLLAGEN; CREATINE KINASE; UNCLASSIFIED DRUG; COL4A2 PROTEIN, HUMAN; COLLAGEN TYPE 4; GLYCINE;

EID: 84896489262     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7224-4     Document Type: Article
Times cited : (35)

References (11)
  • 1
    • 84867124426 scopus 로고    scopus 로고
    • COL4A1 and COL4A2 mutations and disease: Insights into pathogenic mechanisms and potential therapeutic targets
    • 1:CAS:528:DC%2BC38XhsVartr7K 3459649 22914737 10.1093/hmg/dds346
    • Kuo DS, Labelle-Dumais C, Gould DB (2012) COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet 21:R97-R110
    • (2012) Hum Mol Genet , vol.21
    • Kuo, D.S.1    Labelle-Dumais, C.2    Gould, D.B.3
  • 2
    • 78651387761 scopus 로고    scopus 로고
    • Clinical spectrum of type IV collagen (COL4A1) mutations: A novel genetic multisystem disease
    • 1:CAS:528:DC%2BC3cXhs1alu7%2FL 21157337 10.1097/WCO.0b013e32834232c6
    • Vahedi K, Alamowitch S (2011) Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 24:63-68
    • (2011) Curr Opin Neurol , vol.24 , pp. 63-68
    • Vahedi, K.1    Alamowitch, S.2
  • 3
    • 33645498692 scopus 로고    scopus 로고
    • Role of COL4A1 in small-vessel disease and hemorrhagic stroke
    • 1:CAS:528:DC%2BD28XjtFWgsLY%3D 16598045 10.1056/NEJMoa053727
    • Gould DB, Phalan FC, van Mil SE et al (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489-1496
    • (2006) N Engl J Med , vol.354 , pp. 1489-1496
    • Gould, D.B.1    Phalan, F.C.2    Van Mil, S.E.3
  • 4
    • 77955173802 scopus 로고    scopus 로고
    • COL4A1 mutations as a monogenic cause of cerebral small vessel disease: A systematic review
    • 20558831 10.1161/STROKEAHA.110.581918
    • Lanfranconi S, Markus HS (2010) COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 41:e513-e518
    • (2010) Stroke , vol.41
    • Lanfranconi, S.1    Markus, H.S.2
  • 5
    • 34247618247 scopus 로고    scopus 로고
    • COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
    • 17379824 10.1161/STROKEAHA.106.475194
    • Vahedi K, Kubis N, Boukobza M et al (2007) COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke 38:1461-1464
    • (2007) Stroke , vol.38 , pp. 1461-1464
    • Vahedi, K.1    Kubis, N.2    Boukobza, M.3
  • 7
    • 37549015654 scopus 로고    scopus 로고
    • COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
    • 1:CAS:528:DC%2BD1cXisVOnsA%3D%3D 10.1056/NEJMoa071906
    • Plaisier E, Gribouval O, Alamowitch S et al (2007) COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Eng J Med 357:2687-2695
    • (2007) N Eng J Med , vol.357 , pp. 2687-2695
    • Plaisier, E.1    Gribouval, O.2    Alamowitch, S.3
  • 8
    • 84864130509 scopus 로고    scopus 로고
    • COL4A2 mutation associated with familial porencephaly and small-vessel disease
    • 1:CAS:528:DC%2BC38XhtVOju73E 3400734 22333902 10.1038/ejhg.2012.20
    • Verbeek E, Meuwissen ME, Verheijen FW et al (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet 20:844-851
    • (2012) Eur J Hum Genet , vol.20 , pp. 844-851
    • Verbeek, E.1    Meuwissen, M.E.2    Verheijen, F.W.3
  • 9
    • 84855852624 scopus 로고    scopus 로고
    • De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly
    • 1:CAS:528:DC%2BC38XovFGguw%3D%3D 3257897 22209246 10.1016/j.ajhg.2011.11. 016
    • Yoneda Y, Haginoya K, Arai H et al (2012) De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. Am J Hum Genet 90:86-90
    • (2012) Am J Hum Genet , vol.90 , pp. 86-90
    • Yoneda, Y.1    Haginoya, K.2    Arai, H.3
  • 10
    • 84903545868 scopus 로고    scopus 로고
    • Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke
    • 10.1093/hmg/ddt418 [Epub ahead of print]
    • Murray LS, Lu Y, Taggart A et al (2013) Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Hum Mol Genet. doi: 10.1093/hmg/ddt418 [Epub ahead of print]
    • (2013) Hum Mol Genet
    • Murray, L.S.1    Lu, Y.2    Taggart, A.3
  • 11
    • 84855843828 scopus 로고    scopus 로고
    • COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke
    • 1:CAS:528:DC%2BC38XovFGnsg%3D%3D 3257894 22209247 10.1016/j.ajhg.2011.11. 022
    • Jeanne M, Labelle-Dumais C, Jorgensen J et al (2012) COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet 90:91-101
    • (2012) Am J Hum Genet , vol.90 , pp. 91-101
    • Jeanne, M.1    Labelle-Dumais, C.2    Jorgensen, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.